Abstract
Inborn errors of metabolism (IEM) result from the absence or abnormality of an enzyme or its cofactor, leading to the accumulation or deficiency of a specific metabolite. Approximately 500 human diseases due to IEMs are recognized. This number is increasing as novel techniques become available and allow for the identification of new biochemical and molecular abnormalities [1]. IEM are individually rare; however, taken together they affect about 1 in 1000 to 1 in 4500 people [2]. Majority of the disease are pediatric; however, with the identification of late-onset forms and with improved survival, they are conditions that must be considered in patients of all ages. Improved prognosis of children with IEM has significantly increased the number of adult patients with these conditions, and specialized ICU should be aware of the risks and pitfalls of managing them.
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Tran, C., Bonafé, L. (2018). Inborn Errors of Metabolism in Adults: Clues for Nutritional Management in ICU. In: Berger, M. (eds) Critical Care Nutrition Therapy for Non-nutritionists. Springer, Cham. https://doi.org/10.1007/978-3-319-58652-6_11
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